ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1104G>A (p.Ser368=) (rs769364808)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163950 SCV000214547 likely benign Hereditary cancer-predisposing syndrome 2014-10-30 criteria provided, single submitter clinical testing
Color RCV000163950 SCV000684715 likely benign Hereditary cancer-predisposing syndrome 2016-05-24 criteria provided, single submitter clinical testing
Counsyl RCV000411033 SCV000488245 likely benign Lynch syndrome II 2016-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000432066 SCV000513622 benign not specified 2015-09-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000200033 SCV000443332 uncertain significance Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590618 SCV000696095 uncertain significance not provided 2016-01-25 criteria provided, single submitter clinical testing Variant summary: c.1104G>A affects a non-conserved nucleotide, resulting in resulting in a synonymous change. In-silico tool Mutation taster predicts benign outcome. 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESEfinder predicts change of binding motifs for splicing enhancers. This variant was found in 3/120400 control chromosomes at a frequency of 0.0000249, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0007105). This variant has not been reported in LS pts, nor evaluated for functional effect by any in vivo/vitro studies. Multiple clinical laboratories/reputable database classified this variant as likely benign/neutral. Taken together, this variant was classified as VUS-Possibly Benign until more information becomes available.
Invitae RCV000524222 SCV000253131 likely benign Hereditary nonpolyposis colon cancer 2017-07-25 criteria provided, single submitter clinical testing

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